HsaINT1045408 @ hg38
Intron Retention
Gene
ENSG00000165699 | TSC1
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:HGNC:12362]
Coordinates
chr9:132907301-132910692:-
Coord C1 exon
chr9:132910571-132910692
Coord A exon
chr9:132907371-132910570
Coord C2 exon
chr9:132907301-132907370
Length
3200 bp
Sequences
Splice sites
5' ss Seq
AAGGTGCGA
5' ss Score
7.16
3' ss Seq
AATGATACTTATCTTTTCAGGAA
3' ss Score
9.06
Exon sequences
Seq C1 exon
CAGGTGGAAAAGGAACTCCTCTGGGAACCCCAGCAACCTCTCCTCCTCCAGCCCCACTCTGTCATTCGGATGACTACGTGCACATTTCACTCCCCCAGGCCACAGTCACACCCCCCAGGAAG
Seq A exon
GTGCGATCCAGCTCGTCTGCTATCCCTCTGCCCAGGCACAGTGACTCACTTGCAAGCCTCACTTTGAGAAGCCTAATTATGCCAGATAGAATTCTGACCTAAAATGCAATGGGTTTGAATCAGAATAATTGAAAATGGACTAACAAGCTGCTCTCAAGGTGTGATCTGCCGACCCCTGGGTGGTTCCAAAACTCTGCTTTGGCAGAACTCTTGTGGGGAACCCAGCAGGTCAAACCTACTCTCTTGATTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCTTGCTCTGTCGCCCAGGGTGGAGTGCAGTGGCACGATCATGGCTCACTGCAGCCTTGACCTCCCAGACTCATGCAATCCTCCTGCATCAGCCTCGCTAGTAGCTGGGACTACAGGCATGTGCCATGATGCCTGGCTAAGTTTTTTTTTTTTTTGGTGGAGATGAGGTCTCACTATGTTGCCCAGGCTAGTCTTAAACTCCTGGACTCAAACGATCCTCCTACCTGGGCCTCCCAAAATCCTGGGATTACAGGTTTGAGCCACCACACCTGACCAAACCCACCTTCATAGTAACACTAAGCTGTCATTTGCCCTTCCCACTGCATTGGCATCTGCAATGATGGCACAAATACGACGGGGGGTGAAATGGTGGCAACTTAGCCTGAATCAAGGCAGGCATTGAAGTGTCCTATCCCAAGAGGCCTTGCATTCTTCCCTGACATCTTCTCTCCATTAAAAACAATAAAAACTAAAAAATTTTAAAAGTTGAGTGTTCTGTATTAAGCAGTAACCATTATTAATTTTATTAAATCTTAGCCCTTGAGAACATGTATGTGTAATATTCTTCGTGGCAAAATAGAAAATATGCATAAGGCACATGTACTGCATACCAGGGTATGATGGTGACCTCTGGCCCTCATGCAGTTATTTGAATTGAGAGGTGAAGTAGCTGCCTTTTTTCATGGAATGCCAGTTTTATTTGAAAGAACTGCTGTCTTACAAACTGGTTATTCAGACTTGGGTGTTTGGCAGGCAGCTTCTCAAATGATGAGCTGAGTCTGTCACTTCAAGATAAACAACTGACAGTATTTGTTGCCAACAATAAAAGTCAACTCTCAGGTGGAAATCAAGATATTAAAAAACGTGTATATACTACCATGAACTTGATAGCTGCCCCAGGACTTTTATGATGAGACCGAAAAGTCTGTGGAAGCTTAGTTAGTAATTTGAGTTTTTGATATTGTATAATGAAGTGTTTCAACATTTGGAATATTTGAATAGCTTGAGGAGCCAATATTTTCAGAGTGTCCAATGTATGATACGTTGCAGAATCATGCATAGGTAAAAAGTACATTCAAAGTACAAAGCAGGCTGGGCGCAGTGGCTTACACCTGTAACCCAGCACTTTGGGAGGCTGAAGCAGGTGGATCACTTGAGGTCAGCAGTTGAAGACCAGCCTGGCCTACATGTTGAAACACCATCTCTACTAAATATAGACATTAGCCGGGTATGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTAAGTCGAGATCACACCACTGCATTCCAGCCCCAGCCTGGGCAACAGGGCAAGACTGTCACAAAAAAAAAAAAAAAAAGTGCAAGGTAGACTAGTGGGTTTTAACACAGGAAAAGCTCATTGATGTGGTTTCAAATTTCACTTTGTAACTTTAAGAAACTAACACTTATCAAATTTTGGTGTAATAACAAAGATGATTATTTGAAAAGTCTGTCAACATACGTTTACTTTTTGCGGCTGGGCGTGGTGGCTTGCTTCTGTATCCAGCACTCTGGGAGTCCAAGGGAGGTAGATTGCTTGAGCCCAGGCGTTCAAGACCAGCCTGGGCAACATGCAAAACCCCATCTCAACTAAAAAAAAAAAAAAAGCCAGGTGTGGTGATGTGCATCTGTAGTCCCAGCTAATCGGGGAGCTGATGGAGAACGGCTTGAGCCCAGGAGGCAGAGATTGCAGTGAGCCATGATCACGCCACTGCATTCCAGCCTAGGTGACAGAGCCAGACCCTGTCTCAAAAAGAAAAACAACAACACATATGTTTACTTTTGCAATTACATATCTGTGGGGCCCCAGATTTTCTTTATACACTTCAGTCAAAATAACATATTGCAACAGACTGAATGTAGAGGTAGATATGAGAATCCAGCTGTCTTTCATGAAGCCATATATTAAAGAGATGGCAAAAATGTTCCATTCTTCTCACTAAATTTATTTTTATTTCGGGAAATATAGTTTTTTAATAAGAATATGTAATTTACATTAACTTGTAATGGGCTTGCTATTTTTAAGGGAATTAATATTTTAAAAATTTCCTGGTTTTCTAATATAATAATTATGCCTCGTAAAAGCTCTTGGGATTCTCCAACTTTCTCATTATTATTATTATTTTGTGTGTGTGAGACAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATTGCAGCTCTCTGCAGCCTTGACCTCCCTGGCTCAGGTGGTCCTCCCACCTCAGCCTCCTGGGTAGTTGGGACTACAAGCACCAGTCACCATGCCCGGCTACTTTTTAAATTTTTTGTAGAGATGGGGTTTTGCCATGTTCCCCAGGCTAGTCTCAAACTGCTGAGCTCAAGGGATCCACTGGCCTTGGCCTCCCAAAGTGCTGGGACTACAGGCGTGGGCCACCACGCCCAGTCTGCAGCCATTTTTTAAGACTATAAAGAAAGCTGCTGGGCGTGGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATCTGAGGTTGGGAGTTCGTGACCAGCCTGACCAATGTGGAGAAACCCCGTCTGTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCATTTCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAGAAAAGAAAACATCCCAACAATTTGAGAATCACTGCACTCGGCTGACCTTTAAACTACTTTACAATATGCTCGAGAACATGTGCAACATTTTTCGTCTTGTGATATAAATGATACTTATCTTTTCAG
Seq C2 exon
GAAGAGAGAATGGATTCTGCAAGACCATGTCTACACAGACAACACCATCTTCTGAATGACAGAGGATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165699:ENST00000298552:12
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=NA C2=1.000
Domain overlap (PFAM):
C1:
PF043887=Hamartin=FE(5.6=100)
A:
NA
C2:
PF043887=Hamartin=FE(3.2=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains